Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 220136
Gene Symbol: CFAP53
CFAP53 		cilia and flagella associated protein 53 0.780 0.115 9.7E-19
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		disease 0.410 None 1.000 0 0 2012 2015
Entrez Id: 168507
Gene Symbol: PKD1L1
PKD1L1 		polycystin 1 like 1, transient receptor potential channel interacting 0.729 0.231 1.1E-40
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		disease 0.400 None 1.000 0 0 2016 2016
Entrez Id: 4838
Gene Symbol: NODAL
NODAL 		nodal growth differentiation factor 0.588 0.731 0.97
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		disease 0.400 None 1.000 0 0 2009 2009
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3 		Zic family member 3 0.587 0.423 0.92
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		disease 0.130 None 1.000 0 0 1997 2006
Entrez Id: 3954
Gene Symbol: LETM1
LETM1 		leucine zipper and EF-hand containing transmembrane protein 1 0.545 0.692 1.2E-06
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		disease 0.100 None 0 0
Entrez Id: 55997
Gene Symbol: CFC1
CFC1 		cripto, FRL-1, cryptic family 1 0.588 0.577 0.11
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		disease 0.100 None 0 0
Entrez Id: 72
Gene Symbol: ACTG2
ACTG2 		actin gamma 2, smooth muscle 0.505 0.808 7.1E-02
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		disease 0.100 None 0 0
Entrez Id: 7468
Gene Symbol: NSD2
NSD2 		nuclear receptor binding SET domain protein 2 0.507 0.769 1.00
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		disease 0.100 None 0 0
Entrez Id: 7469
Gene Symbol: NELFA
NELFA 		negative elongation factor complex member A 0.619 0.615 0.13
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		disease 0.100 None 0 0